HOXA1, homeobox A1, 3198

N. diseases: 95; N. variants: 5
Disease: Congenital small ears ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.010 GeneticVariation disease BEFREE Here we first demonstrated that a truncating mutation in HOXA1 causes a monogenic disorder of microtia in pigs. 26035869 2015